Table 2. Laboratory data on 10 cases of Dent disease.
| Patient | Alb (g/L) | UPE (mg/kg/24 h) | α1MG (mg/L) | MAmg/L | α1MG/MA | LMWP (%) | UC/Ucr | UCE (mmol/kg/24 h) | Aminoaciduria | Gene mutation | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| No.1 | 32 ± 8 | 64 ± 18 | 402 ± 113 | 285 ± 89 | 1.5 ± 0.12 | 61.3 ± 9.3 | 0.31 ± 0.07 | 0.19 ± 0.02 | Y | CLCN5 c.1633A>C | p.S545R |
| No.2 | 36 ± 6 | 58 ± 17 | 349 ± 125 | 301 ± 81 | 1.3 ± 0.14 | 53.1 ± 7.5 | 0.56 ± 0.12 | 0.28 ± 0.03 | Y | CLCN5 c.779G>A | p.G260D |
| No.3 | 36 ± 8 | 55 ± 15 | 305 ± 108 | 257 ± 76 | 1.3 ± 0.11 | 53.5 ± 8.4 | 0.48 ± 0.13 | 0.27 ± 0.01 | Y | CLCN5 c.259G>T | p.E87X |
| No.4 | 32 ± 6 | 51 ± 16 | 346 ± 101 | 273 ± 86 | 1.3 ± 0.12 | 51.3 ± 8.1 | 0.35 ± 0.09 | 0.19 ± 0.01 | Y | CLCN5 c.1744G>C | p.G582R |
| No.5 | 35 ± 7 | 53 ± 14 | 375 ± 134 | 268 ± 79 | 1.4 ± 0.10 | 56.5 ± 7.2 | 0.38 ± 0.10 | 0.24 ± 0.02 | Y | CLCN5 c.2110C>T | p.R704X |
| No.6* | 33 ± 8 | 53 ± 13 | 382 ± 120 | 258 ± 82 | 1.5 ± 0.16 | 59.5 ± 7.6 | 0.33 ± 0.09 | 0.23 ± 0.02 | Y | CLCN5 c.731C>T | p.S244L |
| No.7* | 36 ± 7 | 62 ± 19 | 353 ± 131 | 249 ± 73 | 1.3 ± 0.15 | 52.8 ± 9.0 | 0.32 ± 0.10 | 0.18 ± 0.01 | Y | CLCN5 c.731C>T | p.S244L |
| No.8 | 36 ± 5 | 59 ± 17 | 258 ± 102 | 197 ± 68 | 1.4 ± 0.13 | 56.3 ± 6.5 | 0.31 ± 0.09 | 0.19 ± 0.02 | Y | CLCN5 del whole gene | p. del whole |
| No.9 | 35 ± 6 | 56 ± 11 | 341 ± 116 | 238 ± 62 | 1.4 ± 0.12 | 56.1 ± 7.5 | 0.35 ± 0.09 | 0.16 ± 0.02 | Y | CLCN5 c.1677G>A | p.W559X |
| No.10 | 36 ± 5 | 57 ± 10 | 355 ± 124 | 248 ± 61 | 1.4 ± 0.13 | 55.9 ± 6.3 | 0.35 ± 0.12 | 0.18 ± 0.03 | Y | OCRL c.2435T>C | p.L812P |
*
Patients 6 and 7 are brothers; Y: yes; α1MG: α1-microglobinuria; Alb: Albumin; LMWP: Low molecular weight proteinuria; MA: Microalbuminuria; UC: Urine calcium; UCE: Urine calcium excretion; Ucr: Urine creatinine; UPE: Urinary protein excretion.